rs121912646

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121912646(C;T)

Make rs121912646(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

132923397

Gene

TG

is a	snp
is	mentioned by
dbSNP	rs121912646
dbSNP (classic)	rs121912646
ClinGen	rs121912646
ebi	rs121912646
HLI	rs121912646
Exac	rs121912646
Gnomad	rs121912646
Varsome	rs121912646
LitVar	rs121912646
Map	rs121912646
PheGenI	rs121912646
Biobank	rs121912646
1000 genomes	rs121912646
hgdp	rs121912646
ensembl	rs121912646
geneview	rs121912646
scholar	rs121912646
google	rs121912646
pharmgkb	rs121912646
gwascentral	rs121912646
openSNP	rs121912646
23andMe	rs121912646
SNPshot	rs121912646
SNPdbe	rs121912646
MSV3d	rs121912646
GWAS Ctlg	rs121912646

Max Magnitude

0

OMIM	188450
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912646(T;T)
Alt	rs121912646(T;T)
Reference	Rs121912646(C;C)
Significance	Pathogenic
Disease	Iodotyrosyl coupling defect
Variation	info
Gene	TG
CLNDBN	Iodotyrosyl coupling defect
Reversed	0
HGVS	NC_000008.10:g.133935642C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013528.18,